Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs199474667
rs199474667
ND1 ; ND2 ; TRNL1
1.000 0.240 MT 3249 non coding transcript exon variant G/A snv
CUI: C0022541
Disease: Kearns-Sayre syndrome
Kearns-Sayre syndrome 		0.700 0